wrinkly skin syndrome
Information
- Disease name
- wrinkly skin syndrome
- Disease ID
- DOID:0112171
- Description
- "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31." [url:https\://pubmed.ncbi.nlm.nih.gov/18157129/, url:https\://pubmed.ncbi.nlm.nih.gov/4765201/, url:https\://www.ncbi.nlm.nih.gov/books/NBK5200/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:273
- Cross Reference ID (Disease Ontology)
- MESH:C536750
- Cross Reference ID (Disease Ontology)
- MIM:278250
- Cross Reference ID (Disease Ontology)
- ORDO:2834
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238875009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0406587
- Exact Synonym (Disease Ontology)
- WSS
- OrphaNumber from OrphaNet (Orphanet)
- 2834